ERCC8

ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Summary

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

Known Variants416 total

rsidPosition (GRCh37)AllelesClassClinVar
rs126528785:60,164,776C/A——
rs8860607175:60,169,679T/G—uncertain significance
rs5491860905:60,169,717A/C—uncertain significance
rs8860607185:60,169,718G/C—uncertain significance
rs1815361915:60,169,798C/T—uncertain significance
rs10003253335:60,169,840G/C—uncertain significance
rs46471585:60,169,859A/G—benign
rs46471575:60,169,923G/T—benign
rs8860607195:60,169,980A/T—uncertain significance
rs46471565:60,169,984G/A—benign
rs46471555:60,170,003C/A—benign
rs17479306215:60,170,065G/C—uncertain significance
rs46471535:60,170,205A/G—likely benign
rs17479378445:60,170,326A/G—uncertain significance
rs5676843365:60,170,329T/C—uncertain significance
rs31175:60,170,337A/G—benign
rs46471525:60,170,406G/A—benign
rs3777459015:60,170,435A/T—uncertain significance
rs17479420275:60,170,443C/T—likely benign
rs14509862295:60,170,450C/T—uncertain significance
rs3741548245:60,170,463G/A—likely benign
rs21124519005:60,170,469G/C—likely benign
rs3686768015:60,170,474C/G—uncertain significance
rs10393710285:60,170,477C/T—uncertain significance
rs5435177815:60,170,484C/T—likely benign
rs7545666665:60,170,485G/A—uncertain significance
rs1387520365:60,170,493T/C—likely benign
rs8792553385:60,170,504T/C—uncertain significance
rs13268784135:60,170,512T/C—uncertain significance
rs21124520385:60,170,514A/G—likely benign
rs7706668205:60,170,516A/G—likely benign
rs21124520475:60,170,518A/C—likely benign
rs25317348925:60,170,519A/T—likely benign
rs11966480625:60,170,527T/C—likely benign
rs46471515:60,170,558T/C—benign
rs46471505:60,170,605T/C—benign
rs173329915:60,179,360C/Aregulatory region variant—
rs46471315:60,183,074T/C—benign
rs14826643875:60,183,266C/T—likely pathogenic
rs25317631005:60,183,267C/G—uncertain significance
rs2019154775:60,183,272C/A—uncertain significance
rs17484278135:60,183,273A/G—likely benign
rs5432916265:60,183,284C/G—conflicting classifications of pathogenicity
rs5463283445:60,183,286G/C—uncertain significance
rs9127242035:60,183,294T/C—likely benign
rs7744299425:60,183,297G/A—likely benign
rs7622306485:60,183,300T/G—likely benign
rs2005132125:60,183,303A/C—likely benign
rs2818752215:60,183,306C/Amissense variantpathogenic
rs46471305:60,183,309A/G—benign
rs7736245895:60,183,318G/A—likely benign
rs1995905885:60,183,319T/C—uncertain significance
rs1418985575:60,183,321G/T—pathogenic
rs5503048795:60,183,332T/C—uncertain significance
rs17484309875:60,183,336A/G—likely benign
rs17484312545:60,183,339A/G—likely benign
rs7510732135:60,183,342A/G—likely benign
rs7571970525:60,183,345T/C—likely benign
rs8975354415:60,183,348C/T—pathogenic
rs3722373105:60,183,349T/C—pathogenic
rs15799921625:60,183,355A/G—likely benign
rs7597391905:60,183,356T/G—likely benign
rs7494843725:60,183,361G/A—likely benign
rs25317635125:60,183,362G/T—likely benign
rs25317635175:60,183,363C/A—likely benign
rs23063505:60,186,618T/C—benign
rs7637846085:60,186,697A/T—likely benign
rs26199045:60,186,701C/T—likely benign
rs7737787825:60,186,703G/C—likely benign
rs12617877315:60,186,705A/G—likely benign
rs17485247145:60,186,708A/T—likely benign
rs12904162705:60,186,715C/A—pathogenic
rs17485248845:60,186,716C/G—uncertain significance
rs25317699095:60,186,724T/C—uncertain significance
rs25317699215:60,186,728C/T—likely benign
rs25317699495:60,186,733A/G—uncertain significance
rs1381738635:60,186,734T/C—conflicting classifications of pathogenicity
rs7536630165:60,186,740G/T—pathogenic
rs7862055735:60,186,741C/Tmissense variantpathogenic
rs7552139445:60,186,742A/C—uncertain significance
rs1418454825:60,186,745C/T—conflicting classifications of pathogenicity
rs10312506005:60,186,748C/A—uncertain significance
rs25317700535:60,186,754T/A—pathogenic
rs12579458905:60,186,763C/A—pathogenic
rs9894426025:60,186,766T/C—uncertain significance
rs7668228905:60,186,767A/C—likely benign
rs7475309545:60,186,772T/C—uncertain significance
rs13506203325:60,186,773A/G—likely benign
rs25317701565:60,186,778T/C—uncertain significance
rs17485278795:60,186,781G/A—likely pathogenic
rs10291017455:60,186,784C/T—uncertain significance
rs1214343235:60,186,791G/Tstop gainedpathogenic
rs12316452935:60,186,797T/A—likely benign
rs7727799795:60,186,800A/G—likely benign
rs17485293945:60,186,805C/T—uncertain significance
rs13365613575:60,186,806A/G—likely benign
rs25317703045:60,186,808C/T—uncertain significance
rs11730454615:60,186,812G/A—conflicting classifications of pathogenicity
rs7607610285:60,186,815G/A—likely benign
rs3732035445:60,186,817T/G—uncertain significance

Showing 100 of 416 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.